TGFB3:Ensemblv115

transforming growth factor beta 3
OMIM: 190230, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green TGFB3 in Aortopathy_Connective Tissue Disorders


Level 2: Cardiovascular disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 5, MI# 615582

Green TGFB3 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 5, MI# 615582

Red TGFB3 in Arrhythmogenic Cardiomyopathy


Level 2: Cardiovascular disorders
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 1, MIM# 107970
Tags
  • 5'UTR

Green TGFB3 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 5, MIM# 615582

Green TGFB3 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • LDS5
  • LOEYS-DIETZ SYNDROME 5

Green TGFB3 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 5 , MIM#615582
Tags
  • cardiac
  • treatable

Green TGFB3 in Pneumothorax

Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Pulmonary emphysema, MONDO:0004849
  • Loeys-Dietz syndrome 5, OMIM:615582

Green TGFB3 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Loeys-Dietz syndrome 5, MIM# 615582